Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14722479G= , CM000671.2:g.14722479G= | GRCh38 |
| NC_000009.11:g.14722477G= , CM000671.1:g.14722477G= | GRCh37 |
| NC_000009.10:g.14712477G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380911.4:c.194C= MANE Select | ENSP00000370297.3:p.Ala65= | |
| ENST00000380911.3:c.194C= | ENSP00000370297.3:p.Ala65= | |
| NM_005454.2:c.194C= | NP_005445.1:p.Ala65= | |
| XR_001746419.1:n.1830C= | ||
| NM_005454.3:c.194C= MANE Select | NP_005445.1:p.Ala65= |